Canonical Allele Identifier: CA436715417
Gene: TERC HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.169764856G>A
GRCh37 chr3:g.169482644G>A
gnomAD v2:
3:169482644 G / A
gnomAD v3:
3:169764856 G / A
gnomAD v4:
chr3-169764856-G-A
Joint Max Group AF 0.00001129 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00000728 (NFE)
ClinVar RCV:
RCV000698067
ClinVar Variation:
575755
dbSNP:
1192146620
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764856G>A , CM000665.2:g.169764856G>A GRCh38
NC_000003.11:g.169482644G>A , CM000665.1:g.169482644G>A GRCh37
NC_000003.10:g.170965338G>A NCBI36
NG_016363.1:g.5205C>T , LRG_347:g.5205C>T

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.205C>T , LRG_347t1:n.205C>T
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